Varaico: Literature-Extracted Genetic Variants

EHBP1

85 papers

RefSeq Summary

This gene encodes an Eps15 homology domain binding protein. The encoded protein may play a role in endocytic trafficking. A single nucleotide polymorphism in this gene is associated with an aggressive...

Pfam Domains

NT-C2aa 12–165UCSCN-terminal C2 in EEIG1 and EHBP1 proteins

CHaa 443–549UCSCCalponin homology (CH) domain

bMERB_domaa 1074–1210UCSCBivalent Mical/EHBP Rab binding domain

Gene Aliases

HGNC Name

EH domain binding protein 1

HGNC Alias Symbols

KIAA0903; NACSIN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001142616.3

p.R828W

c.2482C>T

Surrounding Variants

1 paper

NM_001142616.3

p.R827C

c.2479C>T

1 paper

NM_001142616.3

p.E824*

c.2470G>T

1 paper

NM_015252.5

p.A892P

c.2674G>C